[Analysis of single nucleotide polymorphism in the human beta-globin gene of patients with minor beta-thalassemia from Wenzhou].
This study was aimed to analyze the hematologic and molecular biologic characteristics of 14 Wenzhou patients with minor beta-thalassemia, to find out the mutation sites responsible for the disease by detecting sequences of PCR products and to analyze the single nucleotide polymorphism. The peripheral blood of patients was collected intravenously and was anticoagulated with EDTA-K(2); then the templates from blood samples were extracted, the related primers were designed for sequencing the products amplified by PCR; finally mutation sites resulting in beta-thalassemia were found through comparison and analysis of sequences. The results indicated that the C-->T heterozygous mutation occurred at the IVS-2 -654 site in 4 cases; the TTCT deficiency appeared at CD41/42 site in 1 case; in 2 sites existed single nucleotide polymorphisms occurring at the 59th site of exon 1 (T/C, CAT/CAC, His) and IVS-2 nt 665 (T/C). It is concluded that single nucleotide polymorphism of minor beta-thalassemia patients born in Wenzhou had specificity, this study found too kinds of gene mutations which are IVS-2 -654 C-->T heterozygous mutation and CD41/CD42 site-TTCT deficiency.
Zheng
Mei-Qin
MQ
Department of Laboratorial Examination, Wenzhou Medical College, Wenzhou 325027, Zhejiang Province, China. zmqlylh@126.com
Wu
Ying
Y
Li
Pei-Zhen
PZ
Li
Bao-Qing
BQ
Ding
Hong-Xiang
HX
D001483:Base Sequence; D002681:China; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics* / Q000378:metabolism
D055544:beta-Globins